Canonical Allele Identifier: CA1482798011

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.105542951_105542953delinsCAG , CM000666.2:g.105542951_105542953delinsCAG	GRCh38
NC_000004.11:g.106464108_106464110delinsCAG , CM000666.1:g.106464108_106464110delinsCAG	GRCh37
NC_000004.10:g.106683557_106683559delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939038.1:n.296-244_296-242delinsCTG
XR_939039.1:n.456-244_456-242delinsCTG
XR_939040.1:n.296-1477_296-1475delinsCTG
XR_001741410.1:n.311-244_311-242delinsCTG
XR_001741411.1:n.787-244_787-242delinsCTG
XR_001741412.1:n.311-244_311-242delinsCTG
XR_001741413.1:n.311-244_311-242delinsCTG
XR_001741414.1:n.311-244_311-242delinsCTG
XR_939038.2:n.311-244_311-242delinsCTG
XR_939040.2:n.311-1477_311-1475delinsCTG