Canonical Allele Identifier: CA596112886

Gene: HABP2

Linked Data

• dbSNP Id: rs1276883379
• gnomAD v2: 10-115348044-TG-T
• gnomAD v3: 10-113588285-TG-T
• gnomAD v4: 10-113588285-TG-T
• MyVariant Identifiers: chr10:g.115348045del (hg19) ; chr10:g.113588286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588288del , CM000672.2:g.113588288del	GRCh38
NC_000010.10:g.115348047del , CM000672.1:g.115348047del	GRCh37
NC_000010.9:g.115338037del	NCBI36
NG_008956.1:g.40270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.1602del MANE Select	ENSP00000277903.4:p.Lys535ArgfsTer13
ENST00000351270.3:c.1602del	ENSP00000277903.4:p.Lys535ArgfsTer13
ENST00000542051.5:c.1524del	ENSP00000443283.1:p.Lys509ArgfsTer13
NM_001177660.1:c.1524del	NP_001171131.1:p.Lys509ArgfsTer13
NM_004132.3:c.1602del	NP_004123.1:p.Lys535ArgfsTer13
NM_001177660.2:c.1524del	NP_001171131.1:p.Lys509ArgfsTer13
NM_004132.4:c.1602del	NP_004123.1:p.Lys535ArgfsTer13
NM_004132.5:c.1602del MANE Select	NP_004123.1:p.Lys535ArgfsTer13
NM_001177660.3:c.1524del	NP_001171131.1:p.Lys509ArgfsTer13