Canonical Allele Identifier: CA554051211

Gene: BANK1

Linked Data

• dbSNP Id: rs1273629618
• gnomAD v2: 4-102839360-TTA-T
• gnomAD v4: 4-101918203-TTA-T
• MyVariant Identifiers: chr4:g.102839361_102839362del (hg19) ; chr4:g.101918204_101918205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101918204_101918205del , CM000666.2:g.101918204_101918205del	GRCh38
NC_000004.11:g.102839361_102839362del , CM000666.1:g.102839361_102839362del	GRCh37
NC_000004.10:g.103058384_103058385del	NCBI36
NG_015824.1:g.132598_132599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1206+15_1206+16del MANE Select	ENSP00000320509.4:n.1206+15_1206+16del
ENST00000322953.8:c.1206+15_1206+16del	ENSP00000320509.4:n.1206+15_1206+16del
ENST00000428908.5:c.807+15_807+16del	ENSP00000412748.1:n.807+15_807+16del
ENST00000444316.2:c.1116+15_1116+16del	ENSP00000388817.2:n.1116+15_1116+16del
ENST00000504592.5:c.1161+15_1161+16del	ENSP00000421443.1:n.1161+15_1161+16del
ENST00000508653.5:c.807+15_807+16del	ENSP00000422314.1:n.807+15_807+16del
NM_001083907.2:c.1116+15_1116+16del	NP_001077376.2:n.1116+15_1116+16del
NM_001127507.2:c.807+15_807+16del	NP_001120979.2:n.807+15_807+16del
NM_017935.4:c.1206+15_1206+16del	NP_060405.4:n.1206+15_1206+16del
XM_017008337.2:c.1116+15_1116+16del	XP_016863826.1:n.1116+15_1116+16del
NM_017935.5:c.1206+15_1206+16del MANE Select	NP_060405.5:n.1206+15_1206+16del
NM_001083907.3:c.1116+15_1116+16del	NP_001077376.3:n.1116+15_1116+16del
NM_001127507.3:c.807+15_807+16del	NP_001120979.3:n.807+15_807+16del