Canonical Allele Identifier: CA2634892857

Gene: GALNS

Linked Data

• gnomAD v4: 16-88836126-CTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836136_88836175del , CM000678.2:g.88836136_88836175del	GRCh38
NC_000016.9:g.88902544_88902583del , CM000678.1:g.88902544_88902583del	GRCh37
NC_000016.8:g.87430045_87430084del	NCBI36
NG_008667.1:g.25801_25840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+35_633+74del MANE Select	ENSP00000268695.5:n.633+35_633+74del
ENST00000268695.9:c.633+35_633+74del	ENSP00000268695.5:n.633+35_633+74del
ENST00000562593.5:n.4042+35_4042+74del
ENST00000562831.1:c.417+35_417+74del	ENSP00000455174.1:n.417+35_417+74del
ENST00000562931.5:n.221+35_221+74del
ENST00000566563.1:n.335+35_335+74del
ENST00000567525.5:c.314+35_314+74del	ENSP00000454484.1:n.314+35_314+74del
ENST00000568613.5:c.752+35_752+74del	ENSP00000457921.1:n.752+35_752+74del
NM_000512.4:c.633+35_633+74del	NP_000503.1:n.633+35_633+74del
XM_005256301.2:c.633+35_633+74del	XP_005256358.1:n.633+35_633+74del
XM_005256302.1:c.651+35_651+74del	XP_005256359.1:n.651+35_651+74del
XM_011522982.1:c.651+35_651+74del	XP_011521284.1:n.651+35_651+74del
XM_011522984.1:c.651+35_651+74del	XP_011521286.1:n.651+35_651+74del
NM_001323543.1:c.78+35_78+74del	NP_001310472.1:n.78+35_78+74del
NM_001323544.1:c.651+35_651+74del	NP_001310473.1:n.651+35_651+74del
XM_005256301.3:c.633+35_633+74del	XP_005256358.1:n.633+35_633+74del
XM_011522982.2:c.651+35_651+74del	XP_011521284.1:n.651+35_651+74del
XM_017023111.2:c.651+35_651+74del	XP_016878600.1:n.651+35_651+74del
XM_017023112.2:c.651+35_651+74del	XP_016878601.1:n.651+35_651+74del
XM_017023113.1:c.78+35_78+74del	XP_016878602.1:n.78+35_78+74del
NM_000512.5:c.633+35_633+74del MANE Select	NP_000503.1:n.633+35_633+74del
NM_001323543.2:c.78+35_78+74del	NP_001310472.1:n.78+35_78+74del
NM_001323544.2:c.651+35_651+74del	NP_001310473.1:n.651+35_651+74del