Canonical Allele Identifier: CA2624828946

Gene: PYGL

Linked Data

• gnomAD v4: 14-50937913-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937915_50937916insTTT , CM000676.2:g.50937915_50937916insTTT	GRCh38
NC_000014.8:g.51404633_51404634insTTT , CM000676.1:g.51404633_51404634insTTT	GRCh37
NC_000014.7:g.50474383_50474384insTTT	NCBI36
NG_012796.1:g.11617_11618insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.244-77_244-76insAAA MANE Select	ENSP00000216392.7:n.244-77_244-76insAAA
ENST00000216392.7:c.244-77_244-76insAAA	ENSP00000216392.7:n.244-77_244-76insAAA
ENST00000530336.2:n.311-77_311-76insAAA
ENST00000532462.5:c.244-77_244-76insAAA	ENSP00000431657.1:n.244-77_244-76insAAA
ENST00000544180.6:c.244-2729_244-2728insAAA	ENSP00000443787.1:n.244-2729_244-2728insAAA
NM_001163940.1:c.244-2729_244-2728insAAA	NP_001157412.1:n.244-2729_244-2728insAAA
NM_002863.4:c.244-77_244-76insAAA	NP_002854.3:n.244-77_244-76insAAA
NM_002863.5:c.244-77_244-76insAAA MANE Select	NP_002854.3:n.244-77_244-76insAAA
NM_001163940.2:c.244-2729_244-2728insAAA	NP_001157412.1:n.244-2729_244-2728insAAA