Canonical Allele Identifier: CA1605964417

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918132_1918141delinsGAGAGAGGAT , CM000668.2:g.1918132_1918141delinsGAGAGAGGAT	GRCh38
NC_000006.11:g.1918366_1918375delinsGAGAGAGGAT , CM000668.1:g.1918366_1918375delinsGAGAGAGGAT	GRCh37
NC_000006.10:g.1863365_1863374delinsGAGAGAGGAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+11962_771+11971delinsATCCTCTCTC MANE Select	ENSP00000370194.4:n.771+11962_771+11971delinsATCCTCTCTC
ENST00000380805.6:n.897+11962_897+11971delinsATCCTCTCTC
ENST00000380815.4:c.771+11962_771+11971delinsATCCTCTCTC	ENSP00000370194.4:n.771+11962_771+11971delinsATCCTCTCTC
ENST00000530927.5:c.681+11962_681+11971delinsATCCTCTCTC	ENSP00000436726.1:n.681+11962_681+11971delinsATCCTCTCTC
ENST00000531690.5:n.250+11962_250+11971delinsATCCTCTCTC
NM_001253846.1:c.681+11962_681+11971delinsATCCTCTCTC	NP_001240775.1:n.681+11962_681+11971delinsATCCTCTCTC
NM_001500.3:c.771+11962_771+11971delinsATCCTCTCTC	NP_001491.1:n.771+11962_771+11971delinsATCCTCTCTC
XM_006715066.1:c.772-8154_772-8145delinsATCCTCTCTC	XP_006715129.1:n.772-8154_772-8145delinsATCCTCTCTC
XM_011514500.1:c.681+11962_681+11971delinsATCCTCTCTC	XP_011512802.1:n.681+11962_681+11971delinsATCCTCTCTC
XM_011514501.1:c.771+11962_771+11971delinsATCCTCTCTC	XP_011512803.1:n.771+11962_771+11971delinsATCCTCTCTC
XM_011514502.1:c.771+11962_771+11971delinsATCCTCTCTC	XP_011512804.1:n.771+11962_771+11971delinsATCCTCTCTC
XM_011514507.1:c.643+41726_643+41735delinsATCCTCTCTC	XP_011512809.1:n.643+41726_643+41735delinsATCCTCTCTC
XM_006715066.3:c.772-8154_772-8145delinsATCCTCTCTC	XP_006715129.1:n.772-8154_772-8145delinsATCCTCTCTC
XM_011514502.3:c.771+11962_771+11971delinsATCCTCTCTC	XP_011512804.1:n.771+11962_771+11971delinsATCCTCTCTC
XM_011514507.2:c.643+41726_643+41735delinsATCCTCTCTC	XP_011512809.1:n.643+41726_643+41735delinsATCCTCTCTC
XM_017010752.1:c.510+11962_510+11971delinsATCCTCTCTC	XP_016866241.1:n.510+11962_510+11971delinsATCCTCTCTC
XR_001743349.2:n.954+11962_954+11971delinsATCCTCTCTC
XR_001743350.2:n.955-8154_955-8145delinsATCCTCTCTC
NM_001500.4:c.771+11962_771+11971delinsATCCTCTCTC MANE Select	NP_001491.1:n.771+11962_771+11971delinsATCCTCTCTC
NM_001253846.2:c.681+11962_681+11971delinsATCCTCTCTC	NP_001240775.1:n.681+11962_681+11971delinsATCCTCTCTC