Canonical Allele Identifier: CA784498109

Gene: BANK1

Linked Data

• dbSNP Id: rs1279032909
• gnomAD v3: 4-101917701-TTTTC-T
• gnomAD v4: 4-101917701-TTTTC-T
• MyVariant Identifiers: chr4:g.102838859_102838862del (hg19) ; chr4:g.101917702_101917705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101917709_101917712del , CM000666.2:g.101917709_101917712del	GRCh38
NC_000004.11:g.102838866_102838869del , CM000666.1:g.102838866_102838869del	GRCh37
NC_000004.10:g.103057889_103057892del	NCBI36
NG_015824.1:g.132103_132106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1010-284_1010-281del MANE Select	ENSP00000320509.4:n.1010-284_1010-281del
ENST00000322953.8:c.1010-284_1010-281del	ENSP00000320509.4:n.1010-284_1010-281del
ENST00000428908.5:c.611-284_611-281del	ENSP00000412748.1:n.611-284_611-281del
ENST00000444316.2:c.920-284_920-281del	ENSP00000388817.2:n.920-284_920-281del
ENST00000504592.5:c.965-284_965-281del	ENSP00000421443.1:n.965-284_965-281del
ENST00000508653.5:c.611-284_611-281del	ENSP00000422314.1:n.611-284_611-281del
NM_001083907.2:c.920-284_920-281del	NP_001077376.2:n.920-284_920-281del
NM_001127507.2:c.611-284_611-281del	NP_001120979.2:n.611-284_611-281del
NM_017935.4:c.1010-284_1010-281del	NP_060405.4:n.1010-284_1010-281del
XM_017008337.2:c.920-284_920-281del	XP_016863826.1:n.920-284_920-281del
NM_017935.5:c.1010-284_1010-281del MANE Select	NP_060405.5:n.1010-284_1010-281del
NM_001083907.3:c.920-284_920-281del	NP_001077376.3:n.920-284_920-281del
NM_001127507.3:c.611-284_611-281del	NP_001120979.3:n.611-284_611-281del