Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621457_23621458delinsCA , CM000678.2:g.23621457_23621458delinsCA	GRCh38
NC_000016.9:g.23632778_23632779delinsCA , CM000678.1:g.23632778_23632779delinsCA	GRCh37
NC_000016.8:g.23540279_23540280delinsCA	NCBI36
NG_007406.1:g.24900_24901delinsTG , LRG_308:g.24900_24901delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3023_3024delinsTG	ENSP00000460666.3:p.Leu1008=
ENST00000565038.2:c.498_499delinsTG	ENSP00000459882.2:n.498_499delinsTG
ENST00000566069.6:c.3017_3018delinsTG	ENSP00000459237.2:p.Leu1006=
ENST00000697377.2:c.2861_2862delinsTG	ENSP00000513286.2:p.Leu954=
ENST00000697379.2:c.3023_3024delinsTG	ENSP00000513287.2:p.Leu1008=
ENST00000561514.2:c.2132_2133delinsTG	ENSP00000460666.2:p.Leu711=
ENST00000697374.1:c.2132_2133delinsTG	ENSP00000513284.1:p.Leu711=
ENST00000697375.1:n.4364_4365delinsTG
ENST00000697376.1:c.2132_2133delinsTG	ENSP00000513285.1:p.Leu711=
ENST00000697377.1:c.1970_1971delinsTG	ENSP00000513286.1:p.Leu657=
ENST00000697378.1:n.3537_3538delinsTG
ENST00000697379.1:c.2132_2133delinsTG	ENSP00000513287.1:p.Leu711=
ENST00000697380.1:n.2309_2310delinsTG
ENST00000697381.1:n.1712_1713delinsTG
ENST00000697382.1:c.2132_2133delinsTG	ENSP00000513288.1:p.Leu711=
ENST00000697383.1:c.551_552delinsTG	ENSP00000513289.1:p.Leu184=
ENST00000261584.9:c.3017_3018delinsTG MANE Select	ENSP00000261584.4:p.Leu1006=
ENST00000261584.8:c.3017_3018delinsTG	ENSP00000261584.4:p.Leu1006=
ENST00000568219.5:c.2132_2133delinsTG	ENSP00000454703.2:p.Leu711=
NM_024675.3:c.3017_3018delinsTG , LRG_308t1:c.3017_3018delinsTG	NP_078951.2:p.Leu1006=
XM_011545946.1:c.3023_3024delinsTG	XP_011544248.1:p.Leu1008=
XM_011545947.1:c.3023_3024delinsTG	XP_011544249.1:p.Leu1008=
XM_011545948.1:c.2132_2133delinsTG	XP_011544250.1:p.Leu711=
XR_950851.1:n.3813_3814delinsTG
XM_011545946.2:c.3023_3024delinsTG	XP_011544248.1:p.Leu1008=
XM_011545947.2:c.3023_3024delinsTG	XP_011544249.1:p.Leu1008=
XM_011545948.2:c.2132_2133delinsTG	XP_011544250.1:p.Leu711=
XM_017023671.1:c.3023_3024delinsTG	XP_016879160.1:p.Leu1008=
XM_017023672.2:c.3017_3018delinsTG	XP_016879161.1:p.Leu1006=
XM_017023673.2:c.3017_3018delinsTG	XP_016879162.1:p.Leu1006=
NM_024675.4:c.3017_3018delinsTG MANE Select	NP_078951.2:p.Leu1006=