Canonical Allele Identifier: CA2769759342

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918137_1918138del , CM000668.2:g.1918137_1918138del	GRCh38
NC_000006.11:g.1918371_1918372del , CM000668.1:g.1918371_1918372del	GRCh37
NC_000006.10:g.1863370_1863371del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+11972_771+11973del MANE Select	ENSP00000370194.4:n.771+11972_771+11973del
ENST00000380805.6:n.897+11972_897+11973del
ENST00000380815.4:c.771+11972_771+11973del	ENSP00000370194.4:n.771+11972_771+11973del
ENST00000530927.5:c.681+11972_681+11973del	ENSP00000436726.1:n.681+11972_681+11973del
ENST00000531690.5:n.250+11972_250+11973del
NM_001253846.1:c.681+11972_681+11973del	NP_001240775.1:n.681+11972_681+11973del
NM_001500.3:c.771+11972_771+11973del	NP_001491.1:n.771+11972_771+11973del
XM_006715066.1:c.772-8144_772-8143del	XP_006715129.1:n.772-8144_772-8143del
XM_011514500.1:c.681+11972_681+11973del	XP_011512802.1:n.681+11972_681+11973del
XM_011514501.1:c.771+11972_771+11973del	XP_011512803.1:n.771+11972_771+11973del
XM_011514502.1:c.771+11972_771+11973del	XP_011512804.1:n.771+11972_771+11973del
XM_011514507.1:c.643+41736_643+41737del	XP_011512809.1:n.643+41736_643+41737del
XM_006715066.3:c.772-8144_772-8143del	XP_006715129.1:n.772-8144_772-8143del
XM_011514502.3:c.771+11972_771+11973del	XP_011512804.1:n.771+11972_771+11973del
XM_011514507.2:c.643+41736_643+41737del	XP_011512809.1:n.643+41736_643+41737del
XM_017010752.1:c.510+11972_510+11973del	XP_016866241.1:n.510+11972_510+11973del
XR_001743349.2:n.954+11972_954+11973del
XR_001743350.2:n.955-8144_955-8143del
NM_001500.4:c.771+11972_771+11973del MANE Select	NP_001491.1:n.771+11972_771+11973del
NM_001253846.2:c.681+11972_681+11973del	NP_001240775.1:n.681+11972_681+11973del