Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198222_16198228del , CM000678.2:g.16198222_16198228del	GRCh38
NC_000016.9:g.16292079_16292085del , CM000678.1:g.16292079_16292085del	GRCh37
NC_000016.8:g.16199580_16199586del	NCBI36
NG_007558.2:g.30244_30250del
NG_007558.3:g.30390_30396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1177-46_1177-40del	ENSP00000507301.1:n.1177-46_1177-40del
ENST00000622290.5:c.1177-46_1177-40del	ENSP00000483331.2:n.1177-46_1177-40del
ENST00000205557.12:c.1177-46_1177-40del MANE Select	ENSP00000205557.7:n.1177-46_1177-40del
ENST00000205557.11:c.1177-46_1177-40del	ENSP00000205557.7:n.1177-46_1177-40del
ENST00000456970.6:c.1177-46_1177-40del	ENSP00000405002.2:n.1177-46_1177-40del
ENST00000574094.5:n.1273-46_1273-40del
ENST00000622290.4:c.1177-46_1177-40del	ENSP00000483331.1:n.1177-46_1177-40del
NM_001171.5:c.1177-46_1177-40del	NP_001162.4:n.1177-46_1177-40del
XM_011522479.1:c.1177-46_1177-40del	XP_011520781.1:n.1177-46_1177-40del
XM_011522480.1:c.835-46_835-40del	XP_011520782.1:n.835-46_835-40del
XM_011522481.1:c.835-46_835-40del	XP_011520783.1:n.835-46_835-40del
XM_011522482.1:c.1177-46_1177-40del	XP_011520784.1:n.1177-46_1177-40del
XR_932836.1:n.1412-46_1412-40del
XR_932837.1:n.1413-46_1413-40del
XR_932838.1:n.1413-46_1413-40del
NM_001351800.1:c.835-46_835-40del	NP_001338729.1:n.835-46_835-40del
NR_147784.1:n.1214-46_1214-40del
XM_011522479.2:c.1177-46_1177-40del	XP_011520781.1:n.1177-46_1177-40del
XM_011522481.3:c.835-46_835-40del	XP_011520783.1:n.835-46_835-40del
XM_011522482.3:c.1177-46_1177-40del	XP_011520784.1:n.1177-46_1177-40del
XM_017023212.1:c.1177-46_1177-40del	XP_016878701.1:n.1177-46_1177-40del
XM_017023214.1:c.1177-46_1177-40del	XP_016878703.1:n.1177-46_1177-40del
XM_024450261.1:c.1213-46_1213-40del	XP_024306029.1:n.1213-46_1213-40del
XR_932836.2:n.1358-46_1358-40del
XR_932837.3:n.1358-46_1358-40del
XR_932838.3:n.1358-46_1358-40del
NM_001171.6:c.1177-46_1177-40del MANE Select	NP_001162.5:n.1177-46_1177-40del