Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616521_6616528del , CM000673.2:g.6616521_6616528del	GRCh38
NC_000011.9:g.6637752_6637759del , CM000673.1:g.6637752_6637759del	GRCh37
NC_000011.8:g.6594328_6594335del	NCBI36
NG_008653.1:g.7946_7953del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.773-13_773-6del	ENSP00000507321.1:n.773-13_773-6del
ENST00000299427.12:c.887-13_887-6del MANE Select	ENSP00000299427.6:n.887-13_887-6del
ENST00000436873.7:c.313-442_313-435del
ENST00000530040.2:n.480-13_480-6del
ENST00000533371.6:c.158-13_158-6del	ENSP00000437066.1:n.158-13_158-6del
ENST00000642892.1:c.158-13_158-6del	ENSP00000494165.1:n.158-13_158-6del
ENST00000643439.1:c.627-13_627-6del	ENSP00000495849.1:n.627-13_627-6del
ENST00000643479.1:n.1060_1067del
ENST00000643516.1:c.396-13_396-6del
ENST00000644218.1:c.886+145_886+152del	ENSP00000493574.1:n.886+145_886+152del
ENST00000644683.1:c.340-13_340-6del	ENSP00000494085.1:n.340-13_340-6del
ENST00000644810.1:c.608-13_608-6del	ENSP00000495895.1:n.608-13_608-6del
ENST00000644831.1:n.1063-13_1063-6del
ENST00000644933.1:c.158-13_158-6del	ENSP00000496133.1:n.158-13_158-6del
ENST00000645285.1:c.157+145_157+152del	ENSP00000495058.1:n.157+145_157+152del
ENST00000645331.1:n.1397_1404del
ENST00000645620.1:c.158-13_158-6del	ENSP00000493657.1:n.158-13_158-6del
ENST00000646777.1:n.1207_1214del
ENST00000647016.1:n.1367-13_1367-6del
ENST00000647152.1:c.158-13_158-6del	ENSP00000495893.1:n.158-13_158-6del
ENST00000647209.1:c.756-13_756-6del	ENSP00000495558.1:n.756-13_756-6del
ENST00000647346.1:n.1907-13_1907-6del
ENST00000299427.10:c.887-13_887-6del	ENSP00000299427.6:n.887-13_887-6del
ENST00000436873.6:c.451-13_451-6del	ENSP00000398136.2:n.451-13_451-6del
ENST00000533371.5:c.158-13_158-6del	ENSP00000437066.1:n.158-13_158-6del
ENST00000611494.4:c.887-13_887-6del	ENSP00000484546.1:n.887-13_887-6del
NM_000391.3:c.887-13_887-6del	NP_000382.3:n.887-13_887-6del
NM_000391.4:c.887-13_887-6del MANE Select	NP_000382.3:n.887-13_887-6del