Canonical Allele Identifier: CA2674169369

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719618-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719621del , CM000667.2:g.71719621del	GRCh38
NC_000005.9:g.71015448del , CM000667.1:g.71015448del	GRCh37
NC_000005.8:g.71051204del	NCBI36
NG_015988.1:g.5459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.159+169del MANE Select	ENSP00000296777.4:n.159+169del
ENST00000296777.4:c.159+169del	ENSP00000296777.4:n.159+169del
ENST00000513096.1:n.43del
NM_004291.3:c.159+169del	NP_004282.1:n.159+169del
NM_004291.4:c.159+169del MANE Select	NP_004282.1:n.159+169del