Canonical Allele Identifier: CA2697557736

Gene: GALT

Linked Data

• ClinVar Variation Id: 2744982
• ClinVar RCV Id: RCV003502297

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649397_34649398del , CM000671.2:g.34649397_34649398del	GRCh38
NC_000009.11:g.34649394_34649395del , CM000671.1:g.34649394_34649395del	GRCh37
NC_000009.10:g.34639394_34639395del	NCBI36
NG_009029.1:g.7760_7761del
NG_028966.1:g.2213_2214del
NG_009029.2:g.7809_7810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-13_*493-12del	ENSP00000509954.1:n.*493-13_*493-12del
ENST00000378842.8:c.905-13_905-12del MANE Select	ENSP00000368119.4:n.905-13_905-12del
ENST00000378842.7:c.905-13_905-12del	ENSP00000368119.3:n.905-13_905-12del
ENST00000450095.6:c.578-13_578-12del	ENSP00000401956.2:n.578-13_578-12del
ENST00000488412.2:n.476_477del
ENST00000489643.6:n.1300_1301del
ENST00000554550.5:c.*525-13_*525-12del	ENSP00000451435.1:n.*525-13_*525-12del
ENST00000554638.5:n.1377-13_1377-12del
ENST00000555020.5:n.1681_1682del
ENST00000555754.1:n.353-13_353-12del
ENST00000556278.1:c.432+941_432+942del	ENSP00000451792.1:n.432+941_432+942del
ENST00000557706.5:n.1480-13_1480-12del
NM_000155.3:c.905-13_905-12del	NP_000146.2:n.905-13_905-12del
NM_001258332.1:c.578-13_578-12del	NP_001245261.1:n.578-13_578-12del
NM_000155.4:c.905-13_905-12del MANE Select	NP_000146.2:n.905-13_905-12del
NM_001258332.2:c.578-13_578-12del	NP_001245261.1:n.578-13_578-12del