Canonical Allele Identifier: CA932724455

Gene: HABP2

Linked Data

• dbSNP Id: rs1845295269
• gnomAD v3: 10-113570920-CAA-C
• gnomAD v4: 10-113570920-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113570922_113570923del , CM000672.2:g.113570922_113570923del	GRCh38
NC_000010.10:g.115330681_115330682del , CM000672.1:g.115330681_115330682del	GRCh37
NC_000010.9:g.115320671_115320672del	NCBI36
NG_008956.1:g.22904_22905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.107-3367_107-3366del MANE Select	ENSP00000277903.4:n.107-3367_107-3366del
ENST00000351270.3:c.107-3367_107-3366del	ENSP00000277903.4:n.107-3367_107-3366del
ENST00000542051.5:c.29-3367_29-3366del	ENSP00000443283.1:n.29-3367_29-3366del
NM_001177660.1:c.29-3367_29-3366del	NP_001171131.1:n.29-3367_29-3366del
NM_004132.3:c.107-3367_107-3366del	NP_004123.1:n.107-3367_107-3366del
NM_001177660.2:c.29-3367_29-3366del	NP_001171131.1:n.29-3367_29-3366del
NM_004132.4:c.107-3367_107-3366del	NP_004123.1:n.107-3367_107-3366del
NM_004132.5:c.107-3367_107-3366del MANE Select	NP_004123.1:n.107-3367_107-3366del
NM_001177660.3:c.29-3367_29-3366del	NP_001171131.1:n.29-3367_29-3366del