Canonical Allele Identifier: CA553838319

Gene:

Linked Data

• dbSNP Id: rs1438440788
• gnomAD v2: 4-106463797-TCTC-T
• gnomAD v3: 4-105542640-TCTC-T
• gnomAD v4: 4-105542640-TCTC-T
• MyVariant Identifiers: chr4:g.106463798_106463800del (hg19) ; chr4:g.105542641_105542643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542643_105542645del , CM000666.2:g.105542643_105542645del	GRCh38
NC_000004.11:g.106463800_106463802del , CM000666.1:g.106463800_106463802del	GRCh37
NC_000004.10:g.106683249_106683251del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.362_364del
XR_939039.1:n.522_524del
XR_939040.1:n.296-1167_296-1165del
XR_001741410.1:n.377_379del
XR_001741411.1:n.853_855del
XR_001741412.1:n.377_379del
XR_001741413.1:n.377_379del
XR_001741414.1:n.377_379del
XR_939038.2:n.377_379del
XR_939040.2:n.311-1167_311-1165del