Canonical Allele Identifier: CA590939602

Gene: AK1

Linked Data

• dbSNP Id: rs1491288826
• gnomAD v2: 9-130630582-TGG-T
• gnomAD v3: 9-127868303-TGG-T
• gnomAD v4: 9-127868303-TGG-T
• MyVariant Identifiers: chr9:g.130630583_130630584del (hg19) ; chr9:g.127868304_127868305del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868305_127868306del , CM000671.2:g.127868305_127868306del	GRCh38
NC_000009.11:g.130630584_130630585del , CM000671.1:g.130630584_130630585del	GRCh37
NC_000009.10:g.129670405_129670406del	NCBI36
NG_011792.1:g.14439_14440del
NG_011792.2:g.14439_14440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1016+16_1016+17del
ENST00000643029.1:c.*2191+16_*2191+17del	ENSP00000496586.1:n.*2191+16_*2191+17del
ENST00000643338.1:c.*2080+16_*2080+17del	ENSP00000495890.1:n.*2080+16_*2080+17del
ENST00000644144.2:c.516+16_516+17del MANE Select	ENSP00000494600.1:n.516+16_516+17del
ENST00000645007.1:c.*2440+16_*2440+17del	ENSP00000494773.1:n.*2440+16_*2440+17del
ENST00000646171.1:c.*549+16_*549+17del	ENSP00000495484.1:n.*549+16_*549+17del
ENST00000223836.10:c.564+16_564+17del	ENSP00000223836.10:n.564+16_564+17del
ENST00000373156.5:c.516+16_516+17del	ENSP00000362249.1:n.516+16_516+17del
ENST00000373176.5:c.516+16_516+17del	ENSP00000362271.1:n.516+16_516+17del
ENST00000413016.5:c.338+16_338+17del
ENST00000550143.5:c.296+16_296+17del	ENSP00000449130.1:n.296+16_296+17del
NM_000476.2:c.516+16_516+17del	NP_000467.1:n.516+16_516+17del
XM_005251786.2:c.564+16_564+17del	XP_005251843.1:n.564+16_564+17del
XM_011518348.1:c.516+16_516+17del	XP_011516650.1:n.516+16_516+17del
XM_011518349.1:c.336+16_336+17del	XP_011516651.1:n.336+16_336+17del
NM_001318121.1:c.516+16_516+17del	NP_001305050.1:n.516+16_516+17del
NM_001318122.1:c.564+16_564+17del	NP_001305051.1:n.564+16_564+17del
XM_017014428.1:c.516+16_516+17del	XP_016869917.1:n.516+16_516+17del
XM_024447439.1:c.495+16_495+17del	XP_024303207.1:n.495+16_495+17del
XM_024447440.1:c.336+16_336+17del	XP_024303208.1:n.336+16_336+17del
NM_001318122.2:c.564+16_564+17del	NP_001305051.1:n.564+16_564+17del
NM_000476.3:c.516+16_516+17del MANE Select	NP_000467.1:n.516+16_516+17del
NR_174625.1:n.3835+16_3835+17del
NR_174626.1:n.3678+16_3678+17del
NR_174627.1:n.3715+16_3715+17del
NR_174628.1:n.3093+16_3093+17del
NR_174629.1:n.3038+16_3038+17del
NR_174630.1:n.3074+16_3074+17del
NR_174631.1:n.3019+16_3019+17del
NR_174632.1:n.3108+16_3108+17del