Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596587_109596588delinsAC , CM000674.2:g.109596587_109596588delinsAC	GRCh38
NC_000012.11:g.110034392_110034393delinsAC , CM000674.1:g.110034392_110034393delinsAC	GRCh37
NC_000012.10:g.108518775_108518776delinsAC	NCBI36
NG_007702.1:g.27893_27894delinsAC , LRG_156:g.27893_27894delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.10_11delinsAC	ENSP00000439134.1:n.10_11delinsAC
ENST00000546277.6:c.10_11delinsAC	ENSP00000438153.2:n.10_11delinsAC
ENST00000636529.2:n.840_841delinsAC
ENST00000697195.1:c.965_966delinsAC	ENSP00000513181.1:n.965_966delinsAC
ENST00000697196.1:c.374_375delinsAC	ENSP00000513182.1:n.374_375delinsAC
ENST00000697197.1:n.3230_3231delinsAC
ENST00000697198.1:n.1585_1586delinsAC
ENST00000228510.8:c.10_11delinsAC MANE Select	ENSP00000228510.3:n.10_11delinsAC
ENST00000636529.1:c.826_827delinsAC
ENST00000636996.1:c.1049_1050delinsAC
ENST00000228510.7:c.10_11delinsAC	ENSP00000228510.3:n.10_11delinsAC
ENST00000392727.7:c.10_11delinsAC	ENSP00000376487.3:n.10_11delinsAC
ENST00000447878.6:c.648_649delinsAC	ENSP00000415555.2:n.648_649delinsAC
ENST00000539575.4:c.10_11delinsAC	ENSP00000443551.2:n.10_11delinsAC
ENST00000539696.5:c.10_11delinsAC	ENSP00000439134.1:n.10_11delinsAC
ENST00000540353.1:n.3434_3435delinsAC
ENST00000625889.2:c.10_11delinsAC	ENSP00000486846.1:n.10_11delinsAC
ENST00000629016.2:c.648_649delinsAC	ENSP00000486804.1:n.648_649delinsAC
NM_000431.3:c.10_11delinsAC	NP_000422.1:n.10_11delinsAC
NM_001114185.2:c.10_11delinsAC	NP_001107657.1:n.10_11delinsAC
NM_001301182.1:c.10_11delinsAC	NP_001288111.1:n.10_11delinsAC
XM_011538372.1:c.10_11delinsAC	XP_011536674.1:n.10_11delinsAC
XM_017019313.2:c.10_11delinsAC	XP_016874802.1:n.10_11delinsAC
XM_017019314.1:c.10_11delinsAC	XP_016874803.1:n.10_11delinsAC
NM_000431.4:c.10_11delinsAC MANE Select	NP_000422.1:n.10_11delinsAC
NM_001114185.3:c.10_11delinsAC	NP_001107657.1:n.10_11delinsAC
NM_001301182.2:c.10_11delinsAC	NP_001288111.1:n.10_11delinsAC

HGVS	Amino-acid Change
ENST00000539696.6:c.10_11delinsAC	ENSP00000439134.1:n.10_11delinsAC
ENST00000546277.6:c.10_11delinsAC	ENSP00000438153.2:n.10_11delinsAC
ENST00000636529.2:n.840_841delinsAC
ENST00000697195.1:c.965_966delinsAC	ENSP00000513181.1:n.965_966delinsAC
ENST00000697196.1:c.374_375delinsAC	ENSP00000513182.1:n.374_375delinsAC
ENST00000697197.1:n.3230_3231delinsAC
ENST00000697198.1:n.1585_1586delinsAC
ENST00000228510.8:c.10_11delinsAC MANE Select	ENSP00000228510.3:n.10_11delinsAC
ENST00000636529.1:c.826_827delinsAC
ENST00000636996.1:c.1049_1050delinsAC
ENST00000228510.7:c.10_11delinsAC	ENSP00000228510.3:n.10_11delinsAC
ENST00000392727.7:c.10_11delinsAC	ENSP00000376487.3:n.10_11delinsAC
ENST00000447878.6:c.648_649delinsAC	ENSP00000415555.2:n.648_649delinsAC
ENST00000539575.4:c.10_11delinsAC	ENSP00000443551.2:n.10_11delinsAC
ENST00000539696.5:c.10_11delinsAC	ENSP00000439134.1:n.10_11delinsAC
ENST00000540353.1:n.3434_3435delinsAC
ENST00000625889.2:c.10_11delinsAC	ENSP00000486846.1:n.10_11delinsAC
ENST00000629016.2:c.648_649delinsAC	ENSP00000486804.1:n.648_649delinsAC
NM_000431.3:c.10_11delinsAC	NP_000422.1:n.10_11delinsAC
NM_001114185.2:c.10_11delinsAC	NP_001107657.1:n.10_11delinsAC
NM_001301182.1:c.10_11delinsAC	NP_001288111.1:n.10_11delinsAC
XM_011538372.1:c.10_11delinsAC	XP_011536674.1:n.10_11delinsAC
XM_017019313.2:c.10_11delinsAC	XP_016874802.1:n.10_11delinsAC
XM_017019314.1:c.10_11delinsAC	XP_016874803.1:n.10_11delinsAC
NM_000431.4:c.10_11delinsAC MANE Select	NP_000422.1:n.10_11delinsAC
NM_001114185.3:c.10_11delinsAC	NP_001107657.1:n.10_11delinsAC
NM_001301182.2:c.10_11delinsAC	NP_001288111.1:n.10_11delinsAC