Canonical Allele Identifier: CA2691812621

Gene: AK1

Linked Data

• gnomAD v4: 9-127868223-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868230_127868231del , CM000671.2:g.127868230_127868231del	GRCh38
NC_000009.11:g.130630509_130630510del , CM000671.1:g.130630509_130630510del	GRCh37
NC_000009.10:g.129670330_129670331del	NCBI36
NG_011792.1:g.14519_14520del
NG_011792.2:g.14519_14520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1016+96_1016+97del
ENST00000643029.1:c.*2191+96_*2191+97del	ENSP00000496586.1:n.*2191+96_*2191+97del
ENST00000643338.1:c.*2080+96_*2080+97del	ENSP00000495890.1:n.*2080+96_*2080+97del
ENST00000644144.2:c.516+96_516+97del MANE Select	ENSP00000494600.1:n.516+96_516+97del
ENST00000645007.1:c.*2440+96_*2440+97del	ENSP00000494773.1:n.*2440+96_*2440+97del
ENST00000646171.1:c.*549+96_*549+97del	ENSP00000495484.1:n.*549+96_*549+97del
ENST00000223836.10:c.564+96_564+97del	ENSP00000223836.10:n.564+96_564+97del
ENST00000373156.5:c.516+96_516+97del	ENSP00000362249.1:n.516+96_516+97del
ENST00000373176.5:c.516+96_516+97del	ENSP00000362271.1:n.516+96_516+97del
ENST00000413016.5:c.338+96_338+97del
ENST00000550143.5:c.296+96_296+97del	ENSP00000449130.1:n.296+96_296+97del
NM_000476.2:c.516+96_516+97del	NP_000467.1:n.516+96_516+97del
XM_005251786.2:c.564+96_564+97del	XP_005251843.1:n.564+96_564+97del
XM_011518348.1:c.516+96_516+97del	XP_011516650.1:n.516+96_516+97del
XM_011518349.1:c.336+96_336+97del	XP_011516651.1:n.336+96_336+97del
NM_001318121.1:c.516+96_516+97del	NP_001305050.1:n.516+96_516+97del
NM_001318122.1:c.564+96_564+97del	NP_001305051.1:n.564+96_564+97del
XM_017014428.1:c.516+96_516+97del	XP_016869917.1:n.516+96_516+97del
XM_024447439.1:c.495+96_495+97del	XP_024303207.1:n.495+96_495+97del
XM_024447440.1:c.336+96_336+97del	XP_024303208.1:n.336+96_336+97del
NM_001318122.2:c.564+96_564+97del	NP_001305051.1:n.564+96_564+97del
NM_000476.3:c.516+96_516+97del MANE Select	NP_000467.1:n.516+96_516+97del
NR_174625.1:n.3835+96_3835+97del
NR_174626.1:n.3678+96_3678+97del
NR_174627.1:n.3715+96_3715+97del
NR_174628.1:n.3093+96_3093+97del
NR_174629.1:n.3038+96_3038+97del
NR_174630.1:n.3074+96_3074+97del
NR_174631.1:n.3019+96_3019+97del
NR_174632.1:n.3108+96_3108+97del