Canonical Allele Identifier: CA553722747

Gene: BANK1

Linked Data

• dbSNP Id: rs1288104097
• gnomAD v2: 4-102865192-T-TGAGA
• MyVariant Identifiers: chr4:g.102865192_102865193insGAGA (hg19) ; chr4:g.101944035_101944036insGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101944036_101944037insAGAG , CM000666.2:g.101944036_101944037insAGAG	GRCh38
NC_000004.11:g.102865193_102865194insAGAG , CM000666.1:g.102865193_102865194insAGAG	GRCh37
NC_000004.10:g.103084216_103084217insAGAG	NCBI36
NG_015824.1:g.158430_158431insAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1206+25847_1206+25848insAGAG MANE Select	ENSP00000320509.4:n.1206+25847_1206+25848insAGAG
ENST00000322953.8:c.1206+25847_1206+25848insAGAG	ENSP00000320509.4:n.1206+25847_1206+25848insAGAG
ENST00000428908.5:c.807+25847_807+25848insAGAG	ENSP00000412748.1:n.807+25847_807+25848insAGAG
ENST00000444316.2:c.1116+25847_1116+25848insAGAG	ENSP00000388817.2:n.1116+25847_1116+25848insAGAG
ENST00000504592.5:c.1161+25847_1161+25848insAGAG	ENSP00000421443.1:n.1161+25847_1161+25848insAGAG
ENST00000508653.5:c.807+25847_807+25848insAGAG	ENSP00000422314.1:n.807+25847_807+25848insAGAG
NM_001083907.2:c.1116+25847_1116+25848insAGAG	NP_001077376.2:n.1116+25847_1116+25848insAGAG
NM_001127507.2:c.807+25847_807+25848insAGAG	NP_001120979.2:n.807+25847_807+25848insAGAG
NM_017935.4:c.1206+25847_1206+25848insAGAG	NP_060405.4:n.1206+25847_1206+25848insAGAG
XM_017008337.2:c.1116+25847_1116+25848insAGAG	XP_016863826.1:n.1116+25847_1116+25848insAGAG
NM_017935.5:c.1206+25847_1206+25848insAGAG MANE Select	NP_060405.5:n.1206+25847_1206+25848insAGAG
NM_001083907.3:c.1116+25847_1116+25848insAGAG	NP_001077376.3:n.1116+25847_1116+25848insAGAG
NM_001127507.3:c.807+25847_807+25848insAGAG	NP_001120979.3:n.807+25847_807+25848insAGAG