Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872181_136872182insTTTTTTTTTTTTTTTTTT , CM000668.2:g.136872181_136872182insTTTTTTTTTTTTTTTTTT	GRCh38
NC_000006.11:g.137193319_137193320insTTTTTTTTTTTTTTTTTT , CM000668.1:g.137193319_137193320insTTTTTTTTTTTTTTTTTT	GRCh37
NC_000006.10:g.137235012_137235013insTTTTTTTTTTTTTTTTTT	NCBI36
NG_008462.1:g.54602_54603insTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.748-17_748-16insTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000315680.3:n.748-17_748-16insTTTTTTTTTTTTTTTTTT
ENST00000541292.6:c.13-17_13-16insTTTTTTTTTTTTTTTTTT	ENSP00000441004.1:n.13-17_13-16insTTTTTTTTTTTTTTTTTT
ENST00000678002.1:c.436-17_436-16insTTTTTTTTTTTTTTTTTT
ENST00000678557.1:c.634-17_634-16insTTTTTTTTTTTTTTTTTT	ENSP00000502962.1:n.634-17_634-16insTTTTTTTTTTTTTTTTTT
ENST00000678593.1:c.753-17_753-16insTTTTTTTTTTTTTTTTTT	ENSP00000503841.1:n.753-17_753-16insTTTTTTTTTTTTTTTTTT
ENST00000679286.1:c.628-17_628-16insTTTTTTTTTTTTTTTTTT	ENSP00000503168.1:n.628-17_628-16insTTTTTTTTTTTTTTTTTT
ENST00000318471.4:c.748-17_748-16insTTTTTTTTTTTTTTTTTT	ENSP00000315680.3:n.748-17_748-16insTTTTTTTTTTTTTTTTTT
NM_000288.3:c.748-17_748-16insTTTTTTTTTTTTTTTTTT	NP_000279.1:n.748-17_748-16insTTTTTTTTTTTTTTTTTT
XM_005267019.3:c.634-17_634-16insTTTTTTTTTTTTTTTTTT	XP_005267076.1:n.634-17_634-16insTTTTTTTTTTTTTTTTTT
XM_006715502.1:c.454-17_454-16insTTTTTTTTTTTTTTTTTT	XP_006715565.1:n.454-17_454-16insTTTTTTTTTTTTTTTTTT
XM_011535900.1:c.527-25961_527-25960insTTTTTTTTTTTTTTTTTT	XP_011534202.1:n.527-25961_527-25960insTTTTTTTTTTTTTTTTTT
XM_005267019.4:c.634-17_634-16insTTTTTTTTTTTTTTTTTT	XP_005267076.1:n.634-17_634-16insTTTTTTTTTTTTTTTTTT
XM_006715502.2:c.454-17_454-16insTTTTTTTTTTTTTTTTTT	XP_006715565.1:n.454-17_454-16insTTTTTTTTTTTTTTTTTT
XM_017010934.2:c.527-25961_527-25960insTTTTTTTTTTTTTTTTTT	XP_016866423.1:n.527-25961_527-25960insTTTTTTTTTTTTTTTTTT
NM_000288.4:c.748-17_748-16insTTTTTTTTTTTTTTTTTT MANE Select	NP_000279.1:n.748-17_748-16insTTTTTTTTTTTTTTTTTT