Canonical Allele Identifier: CA2783504198

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648712_34648714del , CM000671.2:g.34648712_34648714del	GRCh38
NC_000009.11:g.34648709_34648711del , CM000671.1:g.34648709_34648711del	GRCh37
NC_000009.10:g.34638709_34638711del	NCBI36
NG_009029.1:g.7075_7077del
NG_028966.1:g.1528_1530del
NG_009029.2:g.7124_7126del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276-50_*276-48del	ENSP00000509954.1:n.*276-50_*276-48del
ENST00000378842.8:c.688-50_688-48del MANE Select	ENSP00000368119.4:n.688-50_688-48del
ENST00000378842.7:c.688-50_688-48del	ENSP00000368119.3:n.688-50_688-48del
ENST00000450095.6:c.361-50_361-48del	ENSP00000401956.2:n.361-50_361-48del
ENST00000473506.6:c.*276-50_*276-48del	ENSP00000432839.2:n.*276-50_*276-48del
ENST00000473529.5:n.847-50_847-48del
ENST00000487381.5:n.1328_1330del
ENST00000489643.6:n.718_720del
ENST00000554085.5:c.*432-50_*432-48del	ENSP00000450419.1:n.*432-50_*432-48del
ENST00000554550.5:c.*308-50_*308-48del	ENSP00000451435.1:n.*308-50_*308-48del
ENST00000554638.5:n.1160-50_1160-48del
ENST00000555020.5:n.1099_1101del
ENST00000555086.5:n.692-50_692-48del
ENST00000555754.1:n.33-50_33-48del
ENST00000556244.1:c.675-50_675-48del
ENST00000556278.1:c.432+256_432+258del	ENSP00000451792.1:n.432+256_432+258del
ENST00000557706.5:n.1250-50_1250-48del
NM_000155.3:c.688-50_688-48del	NP_000146.2:n.688-50_688-48del
NM_001258332.1:c.361-50_361-48del	NP_001245261.1:n.361-50_361-48del
NM_000155.4:c.688-50_688-48del MANE Select	NP_000146.2:n.688-50_688-48del
NM_001258332.2:c.361-50_361-48del	NP_001245261.1:n.361-50_361-48del