Canonical Allele Identifier: CA660059994

Gene: HABP2

Linked Data

• dbSNP Id: rs1329397401
• gnomAD v3: 10-113571266-CTCTTA-C
• gnomAD v4: 10-113571266-CTCTTA-C
• MyVariant Identifiers: chr10:g.115331026_115331030del (hg19) ; chr10:g.113571267_113571271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113571271_113571275del , CM000672.2:g.113571271_113571275del	GRCh38
NC_000010.10:g.115331030_115331034del , CM000672.1:g.115331030_115331034del	GRCh37
NC_000010.9:g.115321020_115321024del	NCBI36
NG_008956.1:g.23253_23257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.107-3018_107-3014del MANE Select	ENSP00000277903.4:n.107-3018_107-3014del
ENST00000351270.3:c.107-3018_107-3014del	ENSP00000277903.4:n.107-3018_107-3014del
ENST00000542051.5:c.29-3018_29-3014del	ENSP00000443283.1:n.29-3018_29-3014del
NM_001177660.1:c.29-3018_29-3014del	NP_001171131.1:n.29-3018_29-3014del
NM_004132.3:c.107-3018_107-3014del	NP_004123.1:n.107-3018_107-3014del
NM_001177660.2:c.29-3018_29-3014del	NP_001171131.1:n.29-3018_29-3014del
NM_004132.4:c.107-3018_107-3014del	NP_004123.1:n.107-3018_107-3014del
NM_004132.5:c.107-3018_107-3014del MANE Select	NP_004123.1:n.107-3018_107-3014del
NM_001177660.3:c.29-3018_29-3014del	NP_001171131.1:n.29-3018_29-3014del