Canonical Allele Identifier: CA932724514

Gene: HABP2

Linked Data

• dbSNP Id: rs1845301659
• gnomAD v3: 10-113571186-GTTC-G
• gnomAD v4: 10-113571186-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113571191_113571193del , CM000672.2:g.113571191_113571193del	GRCh38
NC_000010.10:g.115330950_115330952del , CM000672.1:g.115330950_115330952del	GRCh37
NC_000010.9:g.115320940_115320942del	NCBI36
NG_008956.1:g.23173_23175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.107-3098_107-3096del MANE Select	ENSP00000277903.4:n.107-3098_107-3096del
ENST00000351270.3:c.107-3098_107-3096del	ENSP00000277903.4:n.107-3098_107-3096del
ENST00000542051.5:c.29-3098_29-3096del	ENSP00000443283.1:n.29-3098_29-3096del
NM_001177660.1:c.29-3098_29-3096del	NP_001171131.1:n.29-3098_29-3096del
NM_004132.3:c.107-3098_107-3096del	NP_004123.1:n.107-3098_107-3096del
NM_001177660.2:c.29-3098_29-3096del	NP_001171131.1:n.29-3098_29-3096del
NM_004132.4:c.107-3098_107-3096del	NP_004123.1:n.107-3098_107-3096del
NM_004132.5:c.107-3098_107-3096del MANE Select	NP_004123.1:n.107-3098_107-3096del
NM_001177660.3:c.29-3098_29-3096del	NP_001171131.1:n.29-3098_29-3096del