Canonical Allele Identifier: CA1605964415

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918129_1918133delinsTGAGA , CM000668.2:g.1918129_1918133delinsTGAGA	GRCh38
NC_000006.11:g.1918363_1918367delinsTGAGA , CM000668.1:g.1918363_1918367delinsTGAGA	GRCh37
NC_000006.10:g.1863362_1863366delinsTGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+11970_771+11974delinsTCTCA MANE Select	ENSP00000370194.4:n.771+11970_771+11974delinsTCTCA
ENST00000380805.6:n.897+11970_897+11974delinsTCTCA
ENST00000380815.4:c.771+11970_771+11974delinsTCTCA	ENSP00000370194.4:n.771+11970_771+11974delinsTCTCA
ENST00000530927.5:c.681+11970_681+11974delinsTCTCA	ENSP00000436726.1:n.681+11970_681+11974delinsTCTCA
ENST00000531690.5:n.250+11970_250+11974delinsTCTCA
NM_001253846.1:c.681+11970_681+11974delinsTCTCA	NP_001240775.1:n.681+11970_681+11974delinsTCTCA
NM_001500.3:c.771+11970_771+11974delinsTCTCA	NP_001491.1:n.771+11970_771+11974delinsTCTCA
XM_006715066.1:c.772-8146_772-8142delinsTCTCA	XP_006715129.1:n.772-8146_772-8142delinsTCTCA
XM_011514500.1:c.681+11970_681+11974delinsTCTCA	XP_011512802.1:n.681+11970_681+11974delinsTCTCA
XM_011514501.1:c.771+11970_771+11974delinsTCTCA	XP_011512803.1:n.771+11970_771+11974delinsTCTCA
XM_011514502.1:c.771+11970_771+11974delinsTCTCA	XP_011512804.1:n.771+11970_771+11974delinsTCTCA
XM_011514507.1:c.643+41734_643+41738delinsTCTCA	XP_011512809.1:n.643+41734_643+41738delinsTCTCA
XM_006715066.3:c.772-8146_772-8142delinsTCTCA	XP_006715129.1:n.772-8146_772-8142delinsTCTCA
XM_011514502.3:c.771+11970_771+11974delinsTCTCA	XP_011512804.1:n.771+11970_771+11974delinsTCTCA
XM_011514507.2:c.643+41734_643+41738delinsTCTCA	XP_011512809.1:n.643+41734_643+41738delinsTCTCA
XM_017010752.1:c.510+11970_510+11974delinsTCTCA	XP_016866241.1:n.510+11970_510+11974delinsTCTCA
XR_001743349.2:n.954+11970_954+11974delinsTCTCA
XR_001743350.2:n.955-8146_955-8142delinsTCTCA
NM_001500.4:c.771+11970_771+11974delinsTCTCA MANE Select	NP_001491.1:n.771+11970_771+11974delinsTCTCA
NM_001253846.2:c.681+11970_681+11974delinsTCTCA	NP_001240775.1:n.681+11970_681+11974delinsTCTCA