Canonical Allele Identifier: CA587568375

Gene: GALT

Linked Data

• dbSNP Id: rs1564101913
• gnomAD v2: 9-34648863-A-AG
• gnomAD v4: 9-34648866-A-AG
• MyVariant Identifiers: chr9:g.34648863_34648864insG (hg19) ; chr9:g.34648866_34648867insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648866_34648867insG , CM000671.2:g.34648866_34648867insG	GRCh38
NC_000009.11:g.34648863_34648864insG , CM000671.1:g.34648863_34648864insG	GRCh37
NC_000009.10:g.34638863_34638864insG	NCBI36
NG_009029.1:g.7229_7230insG
NG_028966.1:g.1682_1683insG
NG_009029.2:g.7278_7279insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*380_*381insG	ENSP00000509954.1:n.*380_*381insG
ENST00000378842.8:c.792_793insG MANE Select	ENSP00000368119.4:p.Pro265AlafsTer2
ENST00000378842.7:c.792_793insG	ENSP00000368119.3:p.Pro265AlafsTer2
ENST00000450095.6:c.465_466insG	ENSP00000401956.2:p.Pro156AlafsTer2
ENST00000473506.6:c.*380_*381insG	ENSP00000432839.2:n.*380_*381insG
ENST00000489643.6:n.872_873insG
ENST00000554085.5:c.*536_*537insG	ENSP00000450419.1:n.*536_*537insG
ENST00000554550.5:c.*412_*413insG	ENSP00000451435.1:n.*412_*413insG
ENST00000554638.5:n.1264_1265insG
ENST00000555020.5:n.1253_1254insG
ENST00000555086.5:n.796_797insG
ENST00000555754.1:n.137_138insG
ENST00000556244.1:c.779_780insG
ENST00000556278.1:c.432+410_432+411insG	ENSP00000451792.1:n.432+410_432+411insG
ENST00000557706.5:n.1354_1355insG
NM_000155.3:c.792_793insG	NP_000146.2:p.Pro265AlafsTer2
NM_001258332.1:c.465_466insG	NP_001245261.1:p.Pro156AlafsTer2
NM_000155.4:c.792_793insG MANE Select	NP_000146.2:p.Pro265AlafsTer2
NM_001258332.2:c.465_466insG	NP_001245261.1:p.Pro156AlafsTer2