Canonical Allele Identifier: CA581040327

Gene: NRG1

Linked Data

• dbSNP Id: rs1257966750
• gnomAD v2: 8-31645295-GTTTATC-G
• MyVariant Identifiers: chr8:g.31645296_31645301del (hg19) ; chr8:g.31787780_31787785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31787785_31787790del , CM000670.2:g.31787785_31787790del	GRCh38
NC_000008.10:g.31645301_31645306del , CM000670.1:g.31645301_31645306del	GRCh37
NC_000008.9:g.31764843_31764848del	NCBI36
NG_012005.1:g.153034_153039del
NG_012005.2:g.153564_153569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519301.6:c.37+148354_37+148359del	ENSP00000429582.1:n.37+148354_37+148359del
ENST00000650856.1:c.37+148354_37+148359del	ENSP00000498216.1:n.37+148354_37+148359del
ENST00000650866.1:c.37+148354_37+148359del	ENSP00000499045.1:n.37+148354_37+148359del
ENST00000651149.1:c.37+148354_37+148359del	ENSP00000498375.1:n.37+148354_37+148359del
ENST00000651335.1:c.71+147056_71+147061del
ENST00000652698.1:c.37+148354_37+148359del	ENSP00000499008.1:n.37+148354_37+148359del
ENST00000518104.5:c.37+148354_37+148359del	ENSP00000430053.1:n.37+148354_37+148359del
ENST00000519301.5:c.37+148354_37+148359del	ENSP00000429582.1:n.37+148354_37+148359del
ENST00000520407.5:c.745+147056_745+147061del	ENSP00000434640.1:n.745+147056_745+147061del
ENST00000523534.5:c.304+147056_304+147061del	ENSP00000429067.1:n.304+147056_304+147061del
NM_001159995.1:c.37+148354_37+148359del	NP_001153467.1:n.37+148354_37+148359del
NM_001159999.1:c.37+148354_37+148359del	NP_001153471.1:n.37+148354_37+148359del
NM_001160001.1:c.37+148354_37+148359del	NP_001153473.1:n.37+148354_37+148359del
NM_013962.2:c.745+147056_745+147061del	NP_039256.2:n.745+147056_745+147061del
XM_011544512.1:c.121+147056_121+147061del	XP_011542814.1:n.121+147056_121+147061del
NM_001159995.2:c.37+148354_37+148359del	NP_001153467.1:n.37+148354_37+148359del
NM_001159999.2:c.37+148354_37+148359del	NP_001153471.1:n.37+148354_37+148359del
NM_001160001.2:c.37+148354_37+148359del	NP_001153473.1:n.37+148354_37+148359del
NM_001322201.1:c.-556+148354_-556+148359del	NP_001309130.1:n.-556+148354_-556+148359del
NM_001322202.1:c.-505+148354_-505+148359del	NP_001309131.1:n.-505+148354_-505+148359del
XM_011544512.2:c.121+147056_121+147061del	XP_011542814.1:n.121+147056_121+147061del
XM_017013365.2:c.121+147056_121+147061del	XP_016868854.1:n.121+147056_121+147061del
XM_017013366.2:c.121+147056_121+147061del	XP_016868855.1:n.121+147056_121+147061del
XM_017013367.1:c.121+147056_121+147061del	XP_016868856.1:n.121+147056_121+147061del
XM_017013371.2:c.121+147056_121+147061del	XP_016868860.1:n.121+147056_121+147061del
XM_017013372.2:c.121+147056_121+147061del	XP_016868861.1:n.121+147056_121+147061del
NM_001159995.3:c.37+148354_37+148359del	NP_001153467.1:n.37+148354_37+148359del
NM_001159999.3:c.37+148354_37+148359del	NP_001153471.1:n.37+148354_37+148359del
NM_001160001.3:c.37+148354_37+148359del	NP_001153473.1:n.37+148354_37+148359del
NM_001322201.2:c.-556+148354_-556+148359del	NP_001309130.1:n.-556+148354_-556+148359del
NM_001322202.2:c.-505+148354_-505+148359del	NP_001309131.1:n.-505+148354_-505+148359del
NM_013962.3:c.745+147056_745+147061del	NP_039256.2:n.745+147056_745+147061del