Canonical Allele Identifier: CA2689808479

Gene: GALT

Linked Data

• gnomAD v4: 9-34646911-TGCAGGCCTGTACGAGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646919_34646935del , CM000671.2:g.34646919_34646935del	GRCh38
NC_000009.11:g.34646916_34646932del , CM000671.1:g.34646916_34646932del	GRCh37
NC_000009.10:g.34636916_34636932del	NCBI36
NG_009029.1:g.5282_5298del
NG_009029.2:g.5331_5347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82+133_82+149del	ENSP00000509954.1:n.82+133_82+149del
ENST00000378842.8:c.82+133_82+149del MANE Select	ENSP00000368119.4:n.82+133_82+149del
ENST00000378842.7:c.82+133_82+149del	ENSP00000368119.3:n.82+133_82+149del
ENST00000450095.6:c.-121+133_-121+149del	ENSP00000401956.2:n.-121+133_-121+149del
ENST00000465543.6:n.252_268del
ENST00000468099.2:n.154+133_154+149del
ENST00000472111.5:n.123+133_123+149del
ENST00000473506.6:c.82+133_82+149del	ENSP00000432839.2:n.82+133_82+149del
ENST00000473529.5:n.129+133_129+149del
ENST00000485531.1:n.75_75+16del
ENST00000487381.5:n.108+133_108+149del
ENST00000489643.6:n.112+133_112+149del
ENST00000554085.5:c.82+133_82+149del	ENSP00000450419.1:n.82+133_82+149del
ENST00000554139.5:n.135+133_135+149del
ENST00000554330.5:n.79+52_79+68del
ENST00000554550.5:c.82+133_82+149del	ENSP00000451435.1:n.82+133_82+149del
ENST00000554638.5:n.106+133_106+149del
ENST00000554897.5:c.82+133_82+149del	ENSP00000450942.1:n.82+133_82+149del
ENST00000554944.5:n.112+133_112+149del
ENST00000555020.5:n.112+133_112+149del
ENST00000555086.5:n.86+52_86+68del
ENST00000555214.5:n.91+133_91+149del
ENST00000556157.1:n.20_36del
ENST00000556278.1:c.82+133_82+149del	ENSP00000451792.1:n.82+133_82+149del
ENST00000556403.5:n.95+52_95+68del
ENST00000556494.5:n.114_114+16del
ENST00000557541.5:n.275_275+16del
ENST00000557706.5:n.27_43del
ENST00000605275.1:n.451_467del
NM_000155.3:c.82+133_82+149del	NP_000146.2:n.82+133_82+149del
NM_001258332.1:c.-121+133_-121+149del	NP_001245261.1:n.-121+133_-121+149del
NM_000155.4:c.82+133_82+149del MANE Select	NP_000146.2:n.82+133_82+149del
NM_001258332.2:c.-121+133_-121+149del	NP_001245261.1:n.-121+133_-121+149del