Allele Registry

Canonical Allele Identifier: CA212884

Gene: GALNT3 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.165764895del

GRCh37 chr2:g.166621405del

Linked Data - Sequence & Population

gnomAD v4:

chr2-165764894-AG-A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000008245

ClinVar Variation:

7802

dbSNP:

786205250

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165764895del , CM000664.2:g.165764895del	GRCh38
NC_000002.11:g.166621405del , CM000664.1:g.166621405del	GRCh37
NC_000002.10:g.166329651del	NCBI36
NG_012069.1:g.34399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392701.8:c.677del MANE Select	ENSP00000376465.3:p.Ala226ValfsTer3
ENST00000392701.7:c.677del	ENSP00000376465.3:p.Ala226ValfsTer3
ENST00000412248.5:c.677del	ENSP00000412643.1:p.Ala226ValfsTer3
ENST00000437849.1:c.65del	ENSP00000391104.1:p.Ala22ValfsTer3
NM_004482.3:c.677del	NP_004473.2:p.Ala226ValfsTer3
XM_005246449.1:c.677del	XP_005246506.1:p.Ala226ValfsTer3
XM_006712402.2:c.677del	XP_006712465.1:p.Ala226ValfsTer3
XM_011510929.1:c.677del	XP_011509231.1:p.Ala226ValfsTer3
XM_017003770.1:c.677del	XP_016859259.1:p.Ala226ValfsTer3
XR_002959253.1:n.1018del
NM_004482.4:c.677del MANE Select	NP_004473.2:p.Ala226ValfsTer3

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