Canonical Allele Identifier: CA2691812653

Gene: AK1

Linked Data

• gnomAD v4: 9-127868268-GCCACATAGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868271_127868281del , CM000671.2:g.127868271_127868281del	GRCh38
NC_000009.11:g.130630550_130630560del , CM000671.1:g.130630550_130630560del	GRCh37
NC_000009.10:g.129670371_129670381del	NCBI36
NG_011792.1:g.14465_14475del
NG_011792.2:g.14465_14475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1016+42_1016+52del
ENST00000643029.1:c.*2191+42_*2191+52del	ENSP00000496586.1:n.*2191+42_*2191+52del
ENST00000643338.1:c.*2080+42_*2080+52del	ENSP00000495890.1:n.*2080+42_*2080+52del
ENST00000644144.2:c.516+42_516+52del MANE Select	ENSP00000494600.1:n.516+42_516+52del
ENST00000645007.1:c.*2440+42_*2440+52del	ENSP00000494773.1:n.*2440+42_*2440+52del
ENST00000646171.1:c.*549+42_*549+52del	ENSP00000495484.1:n.*549+42_*549+52del
ENST00000223836.10:c.564+42_564+52del	ENSP00000223836.10:n.564+42_564+52del
ENST00000373156.5:c.516+42_516+52del	ENSP00000362249.1:n.516+42_516+52del
ENST00000373176.5:c.516+42_516+52del	ENSP00000362271.1:n.516+42_516+52del
ENST00000413016.5:c.338+42_338+52del
ENST00000550143.5:c.296+42_296+52del	ENSP00000449130.1:n.296+42_296+52del
NM_000476.2:c.516+42_516+52del	NP_000467.1:n.516+42_516+52del
XM_005251786.2:c.564+42_564+52del	XP_005251843.1:n.564+42_564+52del
XM_011518348.1:c.516+42_516+52del	XP_011516650.1:n.516+42_516+52del
XM_011518349.1:c.336+42_336+52del	XP_011516651.1:n.336+42_336+52del
NM_001318121.1:c.516+42_516+52del	NP_001305050.1:n.516+42_516+52del
NM_001318122.1:c.564+42_564+52del	NP_001305051.1:n.564+42_564+52del
XM_017014428.1:c.516+42_516+52del	XP_016869917.1:n.516+42_516+52del
XM_024447439.1:c.495+42_495+52del	XP_024303207.1:n.495+42_495+52del
XM_024447440.1:c.336+42_336+52del	XP_024303208.1:n.336+42_336+52del
NM_001318122.2:c.564+42_564+52del	NP_001305051.1:n.564+42_564+52del
NM_000476.3:c.516+42_516+52del MANE Select	NP_000467.1:n.516+42_516+52del
NR_174625.1:n.3835+42_3835+52del
NR_174626.1:n.3678+42_3678+52del
NR_174627.1:n.3715+42_3715+52del
NR_174628.1:n.3093+42_3093+52del
NR_174629.1:n.3038+42_3038+52del
NR_174630.1:n.3074+42_3074+52del
NR_174631.1:n.3019+42_3019+52del
NR_174632.1:n.3108+42_3108+52del