Canonical Allele Identifier: CA2676190111

Gene: HAVCR2

Linked Data

• gnomAD v4: 5-157109181-TTAAAGGAAACCAAAGTTCTCTGTCATGCCACACTACACACATCCTGTAAGTGTTCTGATGTCTGTCCTGTGATATCAACAAAGAGGAAGCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157109184_157109275del , CM000667.2:g.157109184_157109275del	GRCh38
NC_000005.9:g.156536195_156536286del , CM000667.1:g.156536195_156536286del	GRCh37
NC_000005.8:g.156468773_156468864del	NCBI36
NG_030444.1:g.4965_5056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524219.2:c.-293-2311_-293-2220del	ENSP00000430328.2:n.-293-2311_-293-2220del
ENST00000696899.1:c.-264-26_-199del
ENST00000696901.1:c.-290_-199del	ENSP00000512962.1:n.-290_-199del
ENST00000307851.8:c.-290_-199del	ENSP00000312002.4:n.-290_-199del
ENST00000524219.1:c.-293-2311_-293-2220del	ENSP00000430328.1:n.-293-2311_-293-2220del