Canonical Allele Identifier: CA766251888

Gene: SAG

Linked Data

• dbSNP Id: rs1417061164
• gnomAD v3: 2-233346816-TGCAAATTTAG-T
• gnomAD v4: 2-233346816-TGCAAATTTAG-T
• MyVariant Identifiers: chr2:g.233346817_233346826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346817_233346826del , CM000664.2:g.233346817_233346826del	GRCh38
NC_000002.11:g.234255463_234255472del , CM000664.1:g.234255463_234255472del	GRCh37
NC_000002.10:g.233920202_233920211del	NCBI36
NG_009116.1:g.44155_44164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1123_1132del MANE Select	ENSP00000386444.1:p.Ala375PhefsTer10
ENST00000409110.5:c.1123_1132del	ENSP00000386444.1:p.Ala375PhefsTer10
ENST00000412969.6:n.2343_2352del
ENST00000471884.5:n.3154_3163del
ENST00000474220.5:n.329_338del
ENST00000476500.5:n.6422_6431del
ENST00000492629.1:n.84_93del
NM_000541.4:c.1123_1132del	NP_000532.2:p.Ala375PhefsTer10
XM_011511589.1:c.1123_1132del	XP_011509891.1:p.Ala375PhefsTer10
XM_011511590.1:c.1123_1132del	XP_011509892.1:p.Ala375PhefsTer10
XM_011511591.1:c.1113_1122del	XP_011509893.1:p.Met371IlefsTer3
XM_011511592.1:c.967_976del	XP_011509894.1:p.Ala323PhefsTer10
XM_011511593.1:c.823_832del	XP_011509895.1:p.Ala275PhefsTer10
XM_011511594.1:c.751_760del	XP_011509896.1:p.Ala251PhefsTer10
XM_011511596.1:c.721_730del	XP_011509898.1:p.Ala241PhefsTer10
XM_011511597.1:c.721_730del	XP_011509899.1:p.Ala241PhefsTer10
XR_922978.1:n.1440_1449del
XR_922979.1:n.1444_1453del
XR_922980.1:n.1539_1548del
XM_011511593.3:c.823_832del	XP_011509895.1:p.Ala275PhefsTer10
XM_017004641.1:c.1113_1122del	XP_016860130.1:p.Met371IlefsTer3
XM_024453036.1:c.711_720del	XP_024308804.1:p.Met237IlefsTer3
XR_001738882.1:n.1321_1330del
XR_922980.2:n.1539_1548del
NM_000541.5:c.1123_1132del MANE Select	NP_000532.2:p.Ala375PhefsTer10