Canonical Allele Identifier: CA772086007

Gene: HCRT

Linked Data

• dbSNP Id: rs1417904323
• gnomAD v3: 17-42184708-CCTT-C
• gnomAD v4: 17-42184708-CCTT-C
• MyVariant Identifiers: chr17:g.40336727_40336729del (hg19) ; chr17:g.42184709_42184711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184710_42184712del , CM000679.2:g.42184710_42184712del	GRCh38
NC_000017.10:g.40336728_40336730del , CM000679.1:g.40336728_40336730del	GRCh37
NC_000017.9:g.37590254_37590256del	NCBI36
NG_011448.1:g.5742_5744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-183_22-181del MANE Select	ENSP00000293330.1:n.22-183_22-181del
NM_001524.1:c.22-183_22-181del MANE Select	NP_001515.1:n.22-183_22-181del