Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145624_44145631del , CM000669.2:g.44145624_44145631del	GRCh38
NC_000007.13:g.44185223_44185230del , CM000669.1:g.44185223_44185230del	GRCh37
NC_000007.12:g.44151748_44151755del	NCBI36
NG_008847.1:g.48795_48802del
NG_008847.2:g.57542_57549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1119_1126del	ENSP00000379142.4:n.1119_1126del
ENST00000616242.5:c.241_248del	ENSP00000482149.2:n.241_248del
ENST00000683378.1:n.347_354del
ENST00000336642.9:c.155_162del	ENSP00000338009.5:p.Val52AlafsTer?
ENST00000345378.7:c.1124_1131del	ENSP00000223366.2:p.Val375AlafsTer?
ENST00000403799.8:c.1121_1128del MANE Select	ENSP00000384247.3:p.Val374AlafsTer?
ENST00000671824.1:c.1184_1191del	ENSP00000500264.1:p.Val395AlafsTer?
ENST00000672743.1:n.133_140del
ENST00000673284.1:c.1121_1128del	ENSP00000499852.1:p.Val374AlafsTer?
ENST00000336642.8:c.173_180del	ENSP00000338009.4:p.Val58AlafsTer?
ENST00000345378.6:c.1124_1131del	ENSP00000223366.2:p.Val375AlafsTer?
ENST00000395796.7:c.1118_1125del	ENSP00000379142.3:p.Val373AlafsTer?
ENST00000403799.7:c.1121_1128del	ENSP00000384247.3:p.Val374AlafsTer?
ENST00000437084.1:c.1070_1077del	ENSP00000402840.1:p.Val357AlafsTer?
ENST00000459642.1:n.501_508del
ENST00000616242.4:c.1118_1125del	ENSP00000482149.1:p.Val373AlafsTer?
NM_000162.3:c.1121_1128del	NP_000153.1:p.Val374AlafsTer?
NM_033507.1:c.1124_1131del	NP_277042.1:p.Val375AlafsTer?
NM_033508.1:c.1118_1125del	NP_277043.1:p.Val373AlafsTer?
NM_000162.4:c.1121_1128del	NP_000153.1:p.Val374AlafsTer?
NM_001354800.1:c.1121_1128del	NP_001341729.1:p.Val374AlafsTer?
NM_001354801.1:c.110_117del	NP_001341730.1:p.Val37AlafsTer?
NM_001354802.1:c.-20_-13del	NP_001341731.1:n.-20_-13del
NM_001354803.1:c.155_162del	NP_001341732.1:p.Val52AlafsTer?
NM_033507.2:c.1124_1131del	NP_277042.1:p.Val375AlafsTer?
NM_033508.2:c.1118_1125del	NP_277043.1:p.Val373AlafsTer?
XM_024446707.1:c.-20_-13del	XP_024302475.1:n.-20_-13del
NM_000162.5:c.1121_1128del MANE Select	NP_000153.1:p.Val374AlafsTer?
NM_033507.3:c.1124_1131del	NP_277042.1:p.Val375AlafsTer?
NM_033508.3:c.1118_1125del	NP_277043.1:p.Val373AlafsTer?
NM_001354803.2:c.155_162del	NP_001341732.1:p.Val52AlafsTer?