Canonical Allele Identifier: CA2691011833

Gene: BAAT

Linked Data

• gnomAD v4: 9-101362730-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362734del , CM000671.2:g.101362734del	GRCh38
NC_000009.11:g.104125016del , CM000671.1:g.104125016del	GRCh37
NC_000009.10:g.103164837del	NCBI36
NG_009774.1:g.27275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.954del MANE Select	ENSP00000259407.2:p.Gln319AsnfsTer6
ENST00000395051.4:c.954del	ENSP00000378491.3:p.Gln319AsnfsTer6
ENST00000674556.1:c.954del	ENSP00000501610.1:p.Gln319AsnfsTer6
ENST00000674791.1:c.762+192del	ENSP00000501644.1:n.762+192del
ENST00000674909.1:c.804+150del	ENSP00000502812.1:n.804+150del
ENST00000259407.6:c.954del	ENSP00000259407.2:p.Gln319AsnfsTer6
ENST00000395051.3:c.954del	ENSP00000378491.3:p.Gln319AsnfsTer6
NM_001127610.1:c.954del	NP_001121082.1:p.Gln319AsnfsTer6
NM_001701.3:c.954del	NP_001692.1:p.Gln319AsnfsTer6
NM_001127610.2:c.954del	NP_001121082.1:p.Gln319AsnfsTer6
NM_001374715.1:c.954del	NP_001361644.1:p.Gln319AsnfsTer6
NM_001701.4:c.954del MANE Select	NP_001692.1:p.Gln319AsnfsTer6