Canonical Allele Identifier: CA2624828947

Gene: PYGL

Linked Data

• gnomAD v4: 14-50937914-T-TTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937915_50937916insTTTAT , CM000676.2:g.50937915_50937916insTTTAT	GRCh38
NC_000014.8:g.51404633_51404634insTTTAT , CM000676.1:g.51404633_51404634insTTTAT	GRCh37
NC_000014.7:g.50474383_50474384insTTTAT	NCBI36
NG_012796.1:g.11616_11617insTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.244-78_244-77insTAAAA MANE Select	ENSP00000216392.7:n.244-78_244-77insTAAAA
ENST00000216392.7:c.244-78_244-77insTAAAA	ENSP00000216392.7:n.244-78_244-77insTAAAA
ENST00000530336.2:n.311-78_311-77insTAAAA
ENST00000532462.5:c.244-78_244-77insTAAAA	ENSP00000431657.1:n.244-78_244-77insTAAAA
ENST00000544180.6:c.244-2730_244-2729insTAAAA	ENSP00000443787.1:n.244-2730_244-2729insTAAAA
NM_001163940.1:c.244-2730_244-2729insTAAAA	NP_001157412.1:n.244-2730_244-2729insTAAAA
NM_002863.4:c.244-78_244-77insTAAAA	NP_002854.3:n.244-78_244-77insTAAAA
NM_002863.5:c.244-78_244-77insTAAAA MANE Select	NP_002854.3:n.244-78_244-77insTAAAA
NM_001163940.2:c.244-2730_244-2729insTAAAA	NP_001157412.1:n.244-2730_244-2729insTAAAA