Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841648_112841652delinsAGTTT , CM000667.2:g.112841648_112841652delinsAGTTT	GRCh38
NC_000005.9:g.112177345_112177349delinsAGTTT , CM000667.1:g.112177345_112177349delinsAGTTT	GRCh37
NC_000005.8:g.112205244_112205248delinsAGTTT	NCBI36
NG_008481.4:g.154128_154132delinsAGTTT , LRG_130:g.154128_154132delinsAGTTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.6054_6058delinsAGTTT MANE Select	NP_000029.2:p.Pro2018=
ENST00000257430.9:c.6054_6058delinsAGTTT MANE Select	ENSP00000257430.4:p.Pro2018=
NM_000038.5:c.6054_6058delinsAGTTT	NP_000029.2:p.Pro2018=
NM_001127510.2:c.6054_6058delinsAGTTT	NP_001120982.1:p.Pro2018=
NM_001127510.3:c.6054_6058delinsAGTTT	NP_001120982.1:p.Pro2018=
NM_001127511.2:c.6000_6004delinsAGTTT	NP_001120983.2:p.Pro2000=
NM_001127511.3:c.6000_6004delinsAGTTT	NP_001120983.2:p.Pro2000=
NM_001354895.1:c.6054_6058delinsAGTTT	NP_001341824.1:p.Pro2018=
NM_001354895.2:c.6054_6058delinsAGTTT	NP_001341824.1:p.Pro2018=
NM_001354896.1:c.6108_6112delinsAGTTT	NP_001341825.1:p.Pro2036=
NM_001354896.2:c.6108_6112delinsAGTTT	NP_001341825.1:p.Pro2036=
NM_001354897.1:c.6084_6088delinsAGTTT	NP_001341826.1:p.Pro2028=
NM_001354897.2:c.6084_6088delinsAGTTT	NP_001341826.1:p.Pro2028=
NM_001354898.1:c.5979_5983delinsAGTTT	NP_001341827.1:p.Pro1993=
NM_001354898.2:c.5979_5983delinsAGTTT	NP_001341827.1:p.Pro1993=
NM_001354899.1:c.5970_5974delinsAGTTT	NP_001341828.1:p.Pro1990=
NM_001354899.2:c.5970_5974delinsAGTTT	NP_001341828.1:p.Pro1990=
NM_001354900.1:c.5931_5935delinsAGTTT	NP_001341829.1:p.Pro1977=
NM_001354900.2:c.5931_5935delinsAGTTT	NP_001341829.1:p.Pro1977=
NM_001354901.1:c.5877_5881delinsAGTTT	NP_001341830.1:p.Pro1959=
NM_001354901.2:c.5877_5881delinsAGTTT	NP_001341830.1:p.Pro1959=
NM_001354902.1:c.5781_5785delinsAGTTT	NP_001341831.1:p.Pro1927=
NM_001354902.2:c.5781_5785delinsAGTTT	NP_001341831.1:p.Pro1927=
NM_001354903.1:c.5751_5755delinsAGTTT	NP_001341832.1:p.Pro1917=
NM_001354903.2:c.5751_5755delinsAGTTT	NP_001341832.1:p.Pro1917=
NM_001354904.1:c.5676_5680delinsAGTTT	NP_001341833.1:p.Pro1892=
NM_001354904.2:c.5676_5680delinsAGTTT	NP_001341833.1:p.Pro1892=
NM_001354905.1:c.5574_5578delinsAGTTT	NP_001341834.1:p.Pro1858=
NM_001354905.2:c.5574_5578delinsAGTTT	NP_001341834.1:p.Pro1858=
NM_001354906.1:c.5205_5209delinsAGTTT	NP_001341835.1:p.Pro1735=
NM_001354906.2:c.5205_5209delinsAGTTT	NP_001341835.1:p.Pro1735=
ENST00000257430.8:c.6054_6058delinsAGTTT	ENSP00000257430.4:p.Pro2018=
ENST00000504915.3:c.6108_6112delinsAGTTT	ENSP00000473355.2:p.Pro2036=
ENST00000505350.2:c.6060_6064delinsAGTTT	ENSP00000481752.1:n.6060_6064delinsAGTTT
ENST00000507379.6:c.6000_6004delinsAGTTT	ENSP00000423224.2:p.Pro2000=
ENST00000508376.6:c.6054_6058delinsAGTTT	ENSP00000427089.2:p.Pro2018=
ENST00000508624.5:c.5376_5380delinsAGTTT	ENSP00000424265.1:n.5376_5380delinsAGTTT
ENST00000509732.6:c.6054_6058delinsAGTTT	ENSP00000426541.2:p.Pro2018=
ENST00000512211.7:c.6054_6058delinsAGTTT	ENSP00000423828.3:p.Pro2018=
ENST00000520401.1:c.230+12676_230+12680delinsAGTTT