Canonical Allele Identifier: CA553838341

Gene:

Linked Data

• dbSNP Id: rs1326692922
• gnomAD v2: 4-106464108-CAG-C
• gnomAD v3: 4-105542951-CAG-C
• gnomAD v4: 4-105542951-CAG-C
• MyVariant Identifiers: chr4:g.106464109_106464110del (hg19) ; chr4:g.105542952_105542953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542954_105542955del , CM000666.2:g.105542954_105542955del	GRCh38
NC_000004.11:g.106464111_106464112del , CM000666.1:g.106464111_106464112del	GRCh37
NC_000004.10:g.106683560_106683561del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-244_296-243del
XR_939039.1:n.456-244_456-243del
XR_939040.1:n.296-1477_296-1476del
XR_001741410.1:n.311-244_311-243del
XR_001741411.1:n.787-244_787-243del
XR_001741412.1:n.311-244_311-243del
XR_001741413.1:n.311-244_311-243del
XR_001741414.1:n.311-244_311-243del
XR_939038.2:n.311-244_311-243del
XR_939040.2:n.311-1477_311-1476del