Canonical Allele Identifier: CA605054328

Gene: ACVR1B

Linked Data

• gnomAD v2: 12-52349200-A-AGG
• MyVariant Identifiers: chr12:g.52349200_52349201insGG (hg19) ; chr12:g.51955416_51955417insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51955417_51955418insGG , CM000674.2:g.51955417_51955418insGG	GRCh38
NC_000012.11:g.52349201_52349202insGG , CM000674.1:g.52349201_52349202insGG	GRCh37
NC_000012.10:g.50635468_50635469insGG	NCBI36
NG_022926.1:g.8751_8752insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257963.9:c.91+3583_91+3584insGG MANE Select	ENSP00000257963.4:n.91+3583_91+3584insGG
ENST00000257963.8:c.91+3583_91+3584insGG	ENSP00000257963.4:n.91+3583_91+3584insGG
ENST00000415850.6:c.91+3583_91+3584insGG	ENSP00000397550.2:n.91+3583_91+3584insGG
ENST00000426655.6:c.91+3583_91+3584insGG	ENSP00000390477.2:n.91+3583_91+3584insGG
ENST00000536420.5:c.-198+3583_-198+3584insGG	ENSP00000443218.1:n.-198+3583_-198+3584insGG
ENST00000541224.5:c.91+3583_91+3584insGG	ENSP00000442656.1:n.91+3583_91+3584insGG
ENST00000542485.1:c.-66+1918_-66+1919insGG	ENSP00000442885.1:n.-66+1918_-66+1919insGG
NM_004302.4:c.91+3583_91+3584insGG	NP_004293.1:n.91+3583_91+3584insGG
NM_020327.3:c.-66+1918_-66+1919insGG	NP_064732.3:n.-66+1918_-66+1919insGG
NM_020328.3:c.91+3583_91+3584insGG	NP_064733.3:n.91+3583_91+3584insGG
XM_011538966.1:c.91+3583_91+3584insGG	XP_011537268.1:n.91+3583_91+3584insGG
XM_011538967.1:c.91+3583_91+3584insGG	XP_011537269.1:n.91+3583_91+3584insGG
XM_011538966.3:c.91+3583_91+3584insGG	XP_011537268.1:n.91+3583_91+3584insGG
XM_011538967.3:c.91+3583_91+3584insGG	XP_011537269.1:n.91+3583_91+3584insGG
XM_017020201.2:c.91+3583_91+3584insGG	XP_016875690.1:n.91+3583_91+3584insGG
NM_004302.5:c.91+3583_91+3584insGG MANE Select	NP_004293.1:n.91+3583_91+3584insGG
NM_020328.4:c.91+3583_91+3584insGG	NP_064733.3:n.91+3583_91+3584insGG
NM_020327.4:c.-66+1918_-66+1919insGG	NP_064732.3:n.-66+1918_-66+1919insGG