Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90617995_90617996insAG , CM000667.2:g.90617995_90617996insAG	GRCh38
NC_000005.9:g.89913812_89913813insAG , CM000667.1:g.89913812_89913813insAG	GRCh37
NC_000005.8:g.89949568_89949569insAG	NCBI36
NG_007083.1:g.64196_64197insAG
NG_007083.2:g.93652_93653insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.357+42_357+43insAG MANE Select	ENSP00000384582.2:n.357+42_357+43insAG
ENST00000638316.1:n.567+42_567+43insAG
ENST00000638638.1:n.764+42_764+43insAG
ENST00000640083.1:n.62+42_62+43insAG
ENST00000640109.1:n.453+42_453+43insAG
ENST00000640281.1:n.416+42_416+43insAG
ENST00000405460.6:c.357+42_357+43insAG	ENSP00000384582.2:n.357+42_357+43insAG
ENST00000508842.5:c.369+42_369+43insAG	ENSP00000425936.1:n.369+42_369+43insAG
NM_032119.3:c.357+42_357+43insAG	NP_115495.3:n.357+42_357+43insAG
NR_003149.1:n.453+42_453+43insAG
XM_011543675.1:c.357+42_357+43insAG	XP_011541977.1:n.357+42_357+43insAG
XM_011543676.1:c.357+42_357+43insAG	XP_011541978.1:n.357+42_357+43insAG
XM_011543678.1:c.357+42_357+43insAG	XP_011541980.1:n.357+42_357+43insAG
XM_011543679.1:c.357+42_357+43insAG	XP_011541981.1:n.357+42_357+43insAG
NM_032119.4:c.357+42_357+43insAG MANE Select	NP_115495.3:n.357+42_357+43insAG
XM_017009963.2:c.357+42_357+43insAG	XP_016865452.1:n.357+42_357+43insAG
XM_017009964.2:c.357+42_357+43insAG	XP_016865453.1:n.357+42_357+43insAG
XM_017009965.1:c.354+42_354+43insAG	XP_016865454.1:n.354+42_354+43insAG
XM_017009966.2:c.357+42_357+43insAG	XP_016865455.1:n.357+42_357+43insAG
XM_017009967.1:c.357+42_357+43insAG	XP_016865456.1:n.357+42_357+43insAG
XM_017009968.2:c.357+42_357+43insAG	XP_016865457.1:n.357+42_357+43insAG
XM_017009969.2:c.357+42_357+43insAG	XP_016865458.1:n.357+42_357+43insAG
XM_017009970.2:c.357+42_357+43insAG	XP_016865459.1:n.357+42_357+43insAG
XM_017009971.2:c.357+42_357+43insAG	XP_016865460.1:n.357+42_357+43insAG
XM_017009974.2:c.357+42_357+43insAG	XP_016865463.1:n.357+42_357+43insAG
NR_003149.2:n.456+42_456+43insAG