Canonical Allele Identifier: CA553724830

Gene: BANK1

Linked Data

• dbSNP Id: rs1200244491
• gnomAD v2: 4-102750693-TTTA-T
• gnomAD v3: 4-101829536-TTTA-T
• gnomAD v4: 4-101829536-TTTA-T
• MyVariant Identifiers: chr4:g.102750694_102750696del (hg19) ; chr4:g.101829537_101829539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101829541_101829543del , CM000666.2:g.101829541_101829543del	GRCh38
NC_000004.11:g.102750698_102750700del , CM000666.1:g.102750698_102750700del	GRCh37
NC_000004.10:g.102969721_102969723del	NCBI36
NG_015824.1:g.43935_43937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322953.9:c.71-267_71-265del MANE Select	ENSP00000320509.4:n.71-267_71-265del
ENST00000322953.8:c.71-267_71-265del	ENSP00000320509.4:n.71-267_71-265del
ENST00000428908.5:c.71-25494_71-25492del	ENSP00000412748.1:n.71-25494_71-25492del
ENST00000444316.2:c.-20-267_-20-265del	ENSP00000388817.2:n.-20-267_-20-265del
ENST00000504592.5:c.26-267_26-265del	ENSP00000421443.1:n.26-267_26-265del
ENST00000508653.5:c.71-25494_71-25492del	ENSP00000422314.1:n.71-25494_71-25492del
NM_001083907.2:c.-20-267_-20-265del	NP_001077376.2:n.-20-267_-20-265del
NM_001127507.2:c.71-25494_71-25492del	NP_001120979.2:n.71-25494_71-25492del
NM_017935.4:c.71-267_71-265del	NP_060405.4:n.71-267_71-265del
XM_017008337.2:c.-20-267_-20-265del	XP_016863826.1:n.-20-267_-20-265del
NM_017935.5:c.71-267_71-265del MANE Select	NP_060405.5:n.71-267_71-265del
NM_001083907.3:c.-20-267_-20-265del	NP_001077376.3:n.-20-267_-20-265del
NM_001127507.3:c.71-25494_71-25492del	NP_001120979.3:n.71-25494_71-25492del